Revel Score:
ENST00000286657 (MANE Select)
0.498
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00388715 (AMR)
Genomes Max Group AF
0.00413377 (AMR)
Exomes Max Group AF
0.00366241 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.72313728C>T , CM000666.2:g.72313728C>T | GRCh38 |
| NC_000004.11:g.73179445C>T , CM000666.1:g.73179445C>T | GRCh37 |
| NC_000004.10:g.73398309C>T | NCBI36 |
| NG_046955.1:g.260072G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286657.10:c.1694G>A MANE Select | ENSP00000286657.4:p.Arg565Gln | |
| ENST00000286657.8:c.1694G>A | ENSP00000286657.4:p.Arg565Gln | |
| ENST00000622135.1:c.1694G>A | ENSP00000480055.1:p.Arg565Gln | |
| NM_014243.2:c.1694G>A | NP_055058.2:p.Arg565Gln | |
| XM_011532421.1:c.1637G>A | XP_011530723.1:p.Arg546Gln | |
| XM_011532422.1:c.1610G>A | XP_011530724.1:p.Arg537Gln | |
| XM_011532423.1:c.1052G>A | XP_011530725.1:p.Arg351Gln | |
| XM_011532424.1:c.962G>A | XP_011530726.1:p.Arg321Gln | |
| XM_011532421.2:c.1637G>A | XP_011530723.1:p.Arg546Gln | |
| XM_011532422.3:c.1610G>A | XP_011530724.1:p.Arg537Gln | |
| NM_014243.3:c.1694G>A MANE Select | NP_055058.2:p.Arg565Gln |